Variant report

Variant	rs1005372
Chromosome Location	chr19:19469629-19469630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19469546..19472054-chr19:19474284..19475951,2	MCF-7	breast:
2	chr19:19247862..19249805-chr19:19467422..19469703,2	K562	blood:
3	chr19:19469138..19472356-chr19:19472972..19475692,3	K562	blood:
4	chr19:19464072..19465901-chr19:19467802..19470297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1036215	1.00[CHB][hapmap]
rs10419684	1.00[CHD][hapmap]
rs1064389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11669730	1.00[CHD][hapmap]
rs12981871	1.00[CEU][hapmap]
rs1989868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2228601	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2905420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2965190	1.00[CHD][hapmap]
rs2965192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102249	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19433400-19469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19433400-19470600	Strong transcription	Fetal Stomach	stomach
3	chr19:19433800-19469800	Strong transcription	Fetal Intestine Large	intestine
4	chr19:19433800-19470400	Strong transcription	Placenta	Placenta
5	chr19:19434200-19469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:19434200-19469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:19434800-19470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:19435000-19471000	Strong transcription	Fetal Brain Female	brain
9	chr19:19435600-19470400	Strong transcription	Brain Germinal Matrix	brain
10	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
11	chr19:19439600-19469800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr19:19440000-19470400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:19440400-19475400	Weak transcription	Right Atrium	heart
14	chr19:19440800-19470400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:19440800-19470600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:19441600-19470400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:19446600-19470800	Strong transcription	Fetal Intestine Small	intestine
18	chr19:19449000-19469800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:19449200-19470000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:19451400-19469800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:19451600-19470000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:19451600-19470000	Strong transcription	Spleen	Spleen
23	chr19:19454000-19470400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:19454200-19469800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:19454400-19469800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr19:19454400-19475600	Weak transcription	Fetal Kidney	kidney
27	chr19:19458200-19471800	Weak transcription	Hela-S3	cervix
28	chr19:19458400-19471800	Weak transcription	K562	blood
29	chr19:19459000-19469800	Strong transcription	Osteobl	bone
30	chr19:19459200-19475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:19459800-19470000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:19460200-19469800	Strong transcription	Brain Anterior Caudate	brain
33	chr19:19460600-19470000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:19460800-19475600	Weak transcription	Psoas Muscle	Psoas
35	chr19:19461600-19469800	Strong transcription	Aorta	Aorta
36	chr19:19461600-19469800	Strong transcription	NHLF	lung
37	chr19:19462000-19470000	Strong transcription	Brain Hippocampus Middle	brain
38	chr19:19462200-19470400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr19:19462600-19469800	Strong transcription	Colonic Mucosa	Colon
40	chr19:19463000-19469800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr19:19463000-19469800	Strong transcription	Gastric	stomach
42	chr19:19463000-19469800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr19:19463000-19470000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:19465200-19483600	Weak transcription	NH-A	brain
45	chr19:19465400-19471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:19466600-19475600	Weak transcription	NHDF-Ad	bronchial
47	chr19:19466800-19469800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:19466800-19475600	Weak transcription	HMEC	breast
49	chr19:19467000-19471800	Weak transcription	Stomach Mucosa	stomach
50	chr19:19467000-19472000	Weak transcription	HepG2	liver

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